Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2830218050

Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 238827

ClinVar RCV Id: RCV000226664 RCV000304565 RCV000620279 RCV000725486 RCV000765557

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_597676.3:p.Ala13204Thr	CA1991530 NM_133432.3:c.39610G>A